Abnormality of the skeletal system, and Bulbous nose

Diseases related with Abnormality of the skeletal system and Bulbous nose

In the following list you will find some of the most common rare diseases related to Abnormality of the skeletal system and Bulbous nose that can help you solving undiagnosed cases.


Top matches:

Low match BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES; BNAR


Related symptoms:

  • Hypertelorism
  • Abnormality of the kidney
  • Short philtrum
  • Bulbous nose
  • Renal agenesis


SOURCES: OMIM MENDELIAN

More info about BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES; BNAR

Low match HYPERTRICHOSIS-ACROMEGALOID FACIAL APPEARANCE SYNDROME


Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia, Cantù type (see these terms).

HYPERTRICHOSIS-ACROMEGALOID FACIAL APPEARANCE SYNDROME Is also known as haff|hypertrichosis-coarse face syndrome|hypertrichosis-acromegaloid facial features syndrome

Related symptoms:

  • Intellectual disability
  • Coarse facial features
  • Blepharophimosis
  • Joint hyperflexibility
  • Bulbous nose


SOURCES: ORPHANET MENDELIAN

More info about HYPERTRICHOSIS-ACROMEGALOID FACIAL APPEARANCE SYNDROME

Low match X-LINKED INTELLECTUAL DISABILITY, SHASHI TYPE


X-linked intellectual disability, Shashi type is characterised by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome.

X-LINKED INTELLECTUAL DISABILITY, SHASHI TYPE Is also known as shashi x-linked mental retardation syndrome|syndromic x-linked intellectual disability type 11|smrxs|mental retardation, x-linked, shashi type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Delayed speech and language development


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, SHASHI TYPE

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Other less relevant matches:

Low match CERNUNNOS-XLF DEFICIENCY


Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.

CERNUNNOS-XLF DEFICIENCY Is also known as combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome|cernunnos xlfd|nhej1 deficiency|scid, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, with microcephaly, growth retardation, and

Related symptoms:

  • Microcephaly
  • Growth delay
  • Anemia
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CERNUNNOS-XLF DEFICIENCY

Low match HAMEL CEREBRO-PALATO-CARDIAC SYNDROME


Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Micrognathia


SOURCES: ORPHANET MENDELIAN

More info about HAMEL CEREBRO-PALATO-CARDIAC SYNDROME

Low match DYSTONIA 28, CHILDHOOD-ONSET; DYT28


Dystonia-28 is an autosomal dominant neurologic disorder characterized by onset of progressive dystonia in the first decade of life. Dystonia typically begins focally in the lower limbs, resulting in gait difficulties, with later progression to other body regions, including the upper limbs, neck, and orofacial region. The severity is variable, and some patients may become wheelchair-bound. Many patients also have an elongated face with bulbous nose, and some have abnormal eye movements. About half of patients show delayed motor and/or cognitive development with mild intellectual disability (summary by Zech et al., 2016 and Meyer et al., 2017).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about DYSTONIA 28, CHILDHOOD-ONSET; DYT28

Low match KAHRIZI SYNDROME; KHRZ


Kahrizi syndrome is an autosomal recessive neurodevelopmental disorder characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features (summary by Kahrizi et al., 2009).See also congenital disorder of glycosylation type Iq (CDG1Q ), an allelic disorder with overlapping features.

KAHRIZI SYNDROME; KHRZ Is also known as mental retardation, cataract, coloboma, and kyphosis, autosomal recessive

Related symptoms:

  • Intellectual disability
  • Seizures
  • Cataract
  • Flexion contracture
  • Motor delay


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about KAHRIZI SYNDROME; KHRZ

Low match OROFACIAL CLEFT 15; OFC15


Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cryptorchidism
  • Low-set ears
  • Epicanthus


SOURCES: OMIM MENDELIAN

More info about OROFACIAL CLEFT 15; OFC15

Low match FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3


The focal dermal dysplasias (FFDDs) are a group of related developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. FFFD3 is an autosomal recessive disorder characterized by bitemporal skin lesions with variable facial findings, including thin and puckered periorbital skin, distichiasis and/or absent eyelashes, upslanting palpebral fissures, a flat nasal bridge with a broad nasal tip, large lips, and redundant facial skin (summary by Slavotinek et al., 2013).FFDD2 (OMIM ) is characterized by the same facial features as FFDD3, but the inheritance is autosomal dominant.For a classification and a discussion of genetic heterogeneity of FFDD, see FFDD1 (OMIM ).

FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3 Is also known as focal facial dermal dysplasia, type ii, formerly|bitemporal forceps marks syndrome|facial ectodermal dysplasia|setleis syndrome

Related symptoms:

  • Global developmental delay
  • Depressed nasal bridge
  • Upslanted palpebral fissure
  • Sparse hair
  • Scarring


SOURCES: OMIM MENDELIAN

More info about FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3

Low match XQ27.3Q28 DUPLICATION SYNDROME


Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.

XQ27.3Q28 DUPLICATION SYNDROME Is also known as trisomy xq27.3q28|dup(x)(q27.3q28)|xq27.3-q28 microduplication syndrome|trisomy xq27.3-q28

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about XQ27.3Q28 DUPLICATION SYNDROME

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Bulbous nose

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Thick vermilion border Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormality of the skeletal system and Bulbous nose. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Coarse facial features

Rare Symptoms - Less than 30% cases


Single transverse palmar crease Delayed speech and language development Thick lower lip vermilion Specific learning disability Palpebral edema Periorbital fullness Motor delay Wide nasal bridge Seizures Hypertelorism Upslanted palpebral fissure Everted lower lip vermilion Cryptorchidism Blepharophimosis Abnormal facial shape Obesity Euryblepharon Broad nasal tip Anal atresia Intellectual disability, progressive Pectus carinatum Scarring Sparse hair Depressed nasal bridge Hyponasal speech Palate fistula Agenesis of lateral incisor Hemangioma Bilateral cleft palate Midface retrusion Sparse eyelashes Capillary hemangioma Hernia Ectropion of lower eyelids High anterior hairline Bilateral cleft lip and palate Cleft lip Bilateral cleft lip Low-set ears Ectropion Sparse eyebrow Protruding ear Epicanthus Thoracic kyphosis Absent eyelashes Ectodermal dysplasia Hypergonadotropic hypogonadism Small for gestational age Thin vermilion border Small hand Short foot Decreased testicular size Gynecomastia Premature ovarian insufficiency Deeply set eye High pitched voice Truncal obesity Sparse body hair Increased circulating gonadotropin level Decreased serum testosterone level Abdominal obesity Neonatal hypotonia Hypogonadism Short palpebral fissure Distichiasis Low anterior hairline Conjunctivitis Dermal atrophy Abnormality of the sternum Aplasia cutis congenita Elbow flexion contracture Multiple rows of eyelashes Delayed skeletal maturation Absent lower eyelashes Aged leonine appearance Generalized hypotonia Failure to thrive Muscular hypotonia Intrauterine growth retardation Intellectual disability, mild Knee flexion contracture Laryngeal dystonia Iris coloboma Thrombocytopenia Narrow palpebral fissure Prominent supraorbital ridges Macroorchidism Anemia Immunodeficiency Recurrent infections Autoimmunity Intellectual disability, moderate Decreased antibody level in blood Convex nasal ridge Sloping forehead Lymphopenia Recurrent bacterial infections Recurrent viral infections Bilateral sensorineural hearing impairment Macrotia B lymphocytopenia Rectal atresia Short philtrum Renal agenesis Overlapping toe Anteriorly placed anus Rectovaginal fistula Bifid nose Joint hyperflexibility Sensorineural hearing impairment Gingival overgrowth Generalized hirsutism Abnormality of the hand Furrowed tongue Oral synechia Hearing impairment Decrease in T cell count Bird-like facies Coloboma Oromandibular dystonia Dysphonia Toe walking Limb dystonia Generalized dystonia Mild microcephaly Abnormality of the kidney Abnormal posturing Clumsiness Craniofacial dystonia Retrocollis Cataract Flexion contracture Intellectual disability, severe Kyphosis Torticollis Astigmatism Micrognathia Spasticity Cleft palate Atrial septal defect Malar flattening Narrow mouth Arachnodactyly Cupped ear Cognitive impairment Abnormality of eye movement Dysarthria Tremor Gait disturbance Dystonia Myoclonus Abnormality of the eye Primary testicular failure



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